Variant report

Variant	rs10450773
Chromosome Location	chr12:50583872-50583873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50477100..50479136-chr12:50582674..50585443,2	K562	blood:
2	chr12:50574926..50577485-chr12:50582740..50584588,2	K562	blood:
3	chr12:50583119..50586019-chr12:50610359..50613018,3	K562	blood:
4	chr12:50583595..50586516-chr12:50609733..50613018,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERS5-1	chr12:50579363-50584044	ENSG00000257298.1

Variant related genes	Relation type
ENSG00000066117	Chromatin interaction
ENSG00000257531	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10747572	0.84[EUR][1000 genomes]
rs10783341	0.81[ASN][1000 genomes]
rs10876011	0.83[ASN][1000 genomes]
rs11169312	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12423130	0.83[EUR][1000 genomes]
rs1862044	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3815671	0.83[EUR][1000 genomes]
rs7300549	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7302422	0.83[EUR][1000 genomes]
rs73106156	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7397849	0.86[ASN][1000 genomes]
rs7974834	0.82[EUR][1000 genomes]
rs8181651	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50562000-50584800	Weak transcription	K562	blood
2	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50564400-50586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:50570400-50592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:50570800-50589800	Strong transcription	Fetal Stomach	stomach
8	chr12:50571800-50586000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:50571800-50586200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
12	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:50572000-50586000	Weak transcription	Left Ventricle	heart
15	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
16	chr12:50572600-50586200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:50575600-50586000	Weak transcription	Dnd41	blood
18	chr12:50575800-50585000	Weak transcription	Liver	Liver
19	chr12:50575800-50586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:50576000-50584600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:50576000-50584600	Weak transcription	Fetal Thymus	thymus
22	chr12:50576000-50586200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:50576600-50595000	Weak transcription	A549	lung
24	chr12:50578600-50586200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:50578800-50585200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:50579200-50584200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:50579600-50584600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:50579600-50598000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:50580400-50595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:50580600-50585200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:50581600-50584600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:50581800-50601000	Weak transcription	Brain Substantia Nigra	brain
33	chr12:50582000-50592000	Weak transcription	Fetal Kidney	kidney
34	chr12:50582000-50596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:50582400-50596200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:50582400-50598200	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:50582400-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:50582600-50584600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:50582600-50586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:50582600-50589200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:50582600-50593000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:50582600-50597000	Weak transcription	Fetal Brain Female	brain
43	chr12:50582600-50598000	Weak transcription	Psoas Muscle	Psoas
44	chr12:50582600-50598200	Weak transcription	Pancreas	Pancrea
45	chr12:50582800-50584000	Weak transcription	Colonic Mucosa	Colon
46	chr12:50582800-50584600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:50582800-50584600	Weak transcription	Lung	lung
48	chr12:50582800-50584800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:50582800-50585400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:50582800-50585800	Weak transcription	Right Atrium	heart

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